SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2488050343 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488050898 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488050909 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488050966 EXT1 Health Risk Pathogenic —
RS2488050974 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488051129 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Multiple congenital exostosis
RS2488051193 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, EXT1-related disorder
RS2488051212 EXT1 Health Risk Pathogenic Exostoses, multiple
RS2488051258 EXT1 Health Risk Likely pathogenic Chondrosarcoma, Chondrosarcoma
RS2488051618 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488051693 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488051750 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488051887 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488052028 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488052150 EXT1 Health Risk Likely pathogenic Exostoses, multiple
RS2488052228 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488052466 EXT1 Health Risk Pathogenic/Likely pathogenic Multiple congenital exostosis, Chondrosarcoma
RS2488052516 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488052574 EXT1 Health Risk Pathogenic EXT1-related disorder, EXT1-related disorder
RS2488052589 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488052905 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488053110 EXT1 Health Risk Pathogenic EXT1-related disorder, EXT1-related disorder
RS2488053146 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488053858 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488053868 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488053876 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488054045 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488055697 SYNE1 Health Risk Likely pathogenic Third degree atrioventricular block, Third degree atrioventricular block
RS2488055805 POP1 Health Risk Likely pathogenic —
RS2488056320 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2488056894 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS2488057471 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488058064 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488072248 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS2488073356 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488073459 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488074192 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488074863 CHD7 Health Risk Pathogenic CHD7-related disorder, CHD7-related disorder
RS2488076177 CHD7 Health Risk Pathogenic —
RS2488077580 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2488084037 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2488084191 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2488085202 EXT1 Health Risk Likely pathogenic Chondrosarcoma, Chondrosarcoma
RS2488085568 EXT1 Health Risk Pathogenic EXT1-related disorder, EXT1-related disorder
RS2488085666 EXT1 Health Risk Pathogenic —
RS2488085680 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488085721 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488085755 EXT1 Health Risk Pathogenic EXT1-related disorder, EXT1-related disorder
RS2488089054 EXT1 Health Risk Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488089155 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488089183 EXT1 Health Risk Likely pathogenic Chondrosarcoma, Chondrosarcoma
RS2488089187 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488089211 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488089247 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488089253 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488089308 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488089392 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488096467 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488096529 EXT1 Health Risk Likely pathogenic Exostoses, multiple
RS2488096579 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488096615 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488096689 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488096787 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488106446 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488106775 EXT1 Health Risk Pathogenic —
RS2488106908 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488107037 CHD7 Health Risk Pathogenic —
RS2488107600 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488108356 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488108726 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2488108990 EXT1 Health Risk Pathogenic —
RS2488109042 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488109170 EXT1 Health Risk Likely pathogenic EXT1-related disorder, EXT1-related disorder
RS2488109265 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488109312 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488113578 EXT1 Health Risk Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488113598 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488113674 EXT1 Health Risk Likely pathogenic Exostoses, multiple
RS2488113860 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488113882 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488113917 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488117463 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488118228 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488118453 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488122111 CHD7 Health Risk Likely pathogenic CHD7-related disorder, CHD7-related disorder
RS2488125890 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488125996 EXT1 Health Risk Pathogenic —
RS2488126304 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488132799 EXT1 Health Risk Likely pathogenic EXT1-related disorder, EXT1-related disorder
RS2488132886 EXT1 Health Risk Pathogenic/Likely pathogenic Multiple congenital exostosis, Exostoses
RS2488132966 EXT1 Health Risk Likely pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488135146 EXT1 Health Risk Pathogenic Exostoses, multiple
RS2488135151 EXT1 Health Risk Likely pathogenic EXT1-related disorder, EXT1-related disorder
RS2488135179 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS2488135392 EXT1 Health Risk Conflicting classifications of pathogenicity Chondrosarcoma, Exostoses
RS2488135393 EXT1 Health Risk Likely pathogenic Exostoses, multiple
RS2488142239 CHD7 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 5 with or without anosmia, Hypogonadotropic hypogonadism 5 with or without anosmia
RS2488142344 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488143378 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS2488146855 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
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